Isolated deletion of the long arm of chromosome 20 del(20q12) in myelodysplastic syndrome: a case report and literature review
Singapore medical journal
;
: e185-9, 2013.
Artigo
em Inglês
| WPRIM
| ID: wpr-337881
ABSTRACT
Isolated deletion of the long arm of chromosome 20 [del(20q12)] is a rare abnormality in patients with de novo myelodysplastic syndrome. It is characterised by refractory thrombocytopenia, minimal haematological dysplasia and a lower risk for progression to acute myeloid leukaemia. Its distinction from chronic autoimmune thrombocytopenia, although clinically and morphologically difficult, is critical. We report a case of refractory cytopenia and unilineage dysplasia in an elderly woman with isolated del(20q12), identified via fluorescence in situ hybridisation analysis of her bone marrow. In order to avoid a misdiagnosis, we suggest that cytogenetic analysis be performed on all patients suspected to have myelodysplastic syndrome with predominant thrombocytopenic presentation.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
Biópsia por Agulha
/
Síndromes Mielodisplásicas
/
Cromossomos Humanos Par 20
/
Células da Medula Óssea
/
Deleção Cromossômica
/
Hibridização in Situ Fluorescente
/
Diagnóstico
/
Citometria de Fluxo
/
Genética
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Idoso
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Singapore medical journal
Ano de publicação:
2013
Tipo de documento:
Artigo
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